Variant report

Variant	rs1996675
Chromosome Location	chr15:43376204-43376205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43375936..43379231-chr15:43382227..43385005,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1037990	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11070386	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11070387	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11070388	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11630595	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12050596	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12905967	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913617	0.94[EUR][1000 genomes]
rs1381856	0.87[EUR][1000 genomes]
rs1462856	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16957385	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1972447	0.83[EUR][1000 genomes]
rs1993813	0.86[EUR][1000 genomes]
rs2035170	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2054389	0.87[EUR][1000 genomes]
rs2126602	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2412746	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2412747	0.86[EUR][1000 genomes]
rs2899069	0.85[EUR][1000 genomes]
rs3736054	0.83[AMR][1000 genomes]
rs3784265	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3803341	0.84[EUR][1000 genomes]
rs4338775	0.86[EUR][1000 genomes]
rs4509988	0.86[EUR][1000 genomes]
rs4573908	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4923955	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4924701	0.85[EUR][1000 genomes]
rs4924704	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6416436	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6493076	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6493077	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7176116	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7178567	0.85[EUR][1000 genomes]
rs8027733	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8035894	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8036710	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8037022	0.86[EUR][1000 genomes]
rs8042481	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9796571	0.82[EUR][1000 genomes]
rs9920498	0.85[EUR][1000 genomes]
rs9920904	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv904137	chr15:43268970-43392075	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv904138	chr15:43268970-43414673	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
16	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
17	nsv904140	chr15:43276345-43385147	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv904141	chr15:43276345-43392075	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv904142	chr15:43276345-43403955	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv904143	chr15:43276345-43414673	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
22	esv3384283	chr15:43280479-43380788	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv904145	chr15:43286746-43392075	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv904146	chr15:43294218-43414673	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv904147	chr15:43309429-43403955	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1996675	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:43301800-43385800	Weak transcription	Gastric	stomach
3	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
4	chr15:43333600-43377200	Weak transcription	Stomach Mucosa	stomach
5	chr15:43340200-43380000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:43345400-43393400	Weak transcription	Psoas Muscle	Psoas
7	chr15:43346800-43395400	Weak transcription	Small Intestine	intestine
8	chr15:43348200-43378600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:43348200-43389600	Weak transcription	Spleen	Spleen
10	chr15:43348400-43397400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:43351000-43378800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:43353000-43397400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:43362800-43378400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:43362800-43385600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:43363400-43385600	Weak transcription	Ovary	ovary
16	chr15:43363600-43380400	Weak transcription	Brain Substantia Nigra	brain
17	chr15:43365000-43386800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:43365400-43378200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:43365400-43385800	Weak transcription	Aorta	Aorta
20	chr15:43366200-43376400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:43366200-43378200	Weak transcription	NHLF	lung
22	chr15:43366800-43376400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:43366800-43381800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:43367400-43376400	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:43367400-43377200	Weak transcription	Brain Anterior Caudate	brain
26	chr15:43367400-43377200	Weak transcription	Colonic Mucosa	Colon
27	chr15:43367400-43378200	Weak transcription	GM12878-XiMat	blood
28	chr15:43367400-43394400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:43370000-43378400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:43370000-43378400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:43370000-43378400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:43370200-43377600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:43370200-43382200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:43370200-43384600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:43370200-43387000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:43370400-43379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:43370800-43377800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:43371000-43378400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:43371400-43377600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:43371400-43379200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:43371600-43378400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:43372000-43377600	Strong transcription	Osteobl	bone
43	chr15:43372000-43378000	Strong transcription	Fetal Intestine Large	intestine
44	chr15:43372000-43379200	Strong transcription	Placenta	Placenta
45	chr15:43372000-43379400	Strong transcription	Fetal Thymus	thymus
46	chr15:43372200-43377200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr15:43372200-43377400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr15:43372200-43377600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr15:43372200-43377800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr15:43372200-43378400	Strong transcription	Primary monocytes fromperipheralblood	blood

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